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Smith-Magenis syndrome

Disease Summary
Associated Targets (7)
Tbio

6

Tchem

1


Explore Associated Targets
Mondo Description Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Uniprot Description Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.
Disease Ontology Description A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
Mondo Term and Equivalent IDs
MONDO:0008434:  Smith-Magenis syndrome
GARD:0008197: 
MESH:D058496: 
NCIT:C75469: 
Orphanet:819: 
SCTID:401315004: 
UMLS:C0795864: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)